Infantile ascending hereditary spastic paralysis
| Classification according to ICD-10 | |
|---|---|
| G12.2 | Motor neuron disease |
| ICD-10 online (WHO version 2019) | |
The Infantile ascending hereditary spastic paralysis (IAHSP) is a rare hereditary form of a spastic paraplegia with the main features of an onset in the first years of life neurodegeneration .
It belongs to the motor neuron diseases , both the upper and the lower motor neuron are affected.
Synonyms are: Hereditary spastic paralysis, ascending, of early childhood; English infantile-onset ascending hereditary spastic paralysis ; IAHSP
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .
root cause
The disease are mutations in ALS2 - gene in chromosome 2 locus q33.1 basis which for Alsin coded.
Clinical manifestations
Clinical criteria are:
- Normal early childhood development
- Spastic paraplegia of the legs, later also of the arms, begins in childhood
- Speech disorders ( dysarthria ) and dysphagia
diagnosis
Only the motor evoked potentials show significant changes; other examinations, including magnetic resonance imaging, are normal.
Differential diagnosis
Must be distinguished are the Juvenile Primary Lateral Sclerosis and the Juvenile ALS .
therapy
The treatment aims to maintain mobility.
history
The first description was probably made in 2002 by Eleonore Eymard-Pierre and colleagues.
literature
- SM Wakil, K. Ramzan, R. Abuthuraya, S. Hagos, H. Al-Dossari, R. Al-Omar, H. Murad, A. Chedrawi, ZN Al-Hassnan, J. Finsterer, S. Bohlega: Infantile- onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C> T. In: Genes. Volume 536, Number 1, February 2014, pp. 217-220, doi: 10.1016 / j.gene.2013.11.043 , PMID 24315819 .
Individual evidence
- ↑ a b c d Hereditary spastic paralysis, ascending, of early childhood. In: Orphanet (Rare Disease Database).
- ^ Spastic paralysis, infantile onset ascending. In: Online Mendelian Inheritance in Man . (English)
- ^ E. Eymard-Pierre, G. Lesca, S. Dollet, FM Santorelli, M. di Capua, E. Bertini, O. Boespflug-Tanguy: Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. In: American Journal of Human Genetics . Volume 71, number 3, September 2002, pp. 518-527, doi: 10.1086 / 342359 , PMID 12145748 , PMC 379189 (free full text).
